A new large CFTR rearrangement illustrates the importance of searching for complex alleles.

Human mutation

Volumn 27, Issue 7, 2006, Pages 716-717

  Niel, F ^a   Legendre, M ^a   Bienvenu, T ^a   Bieth, E ^a   Lalau, G ^a   Sermet, I ^a   Bondeux, D ^a   Boukari, R ^a   Derelle, J ^a   Levy, P ^a   Ruszniewski, P ^a   Martin, J ^a   Costa, C ^a   Goossens, M ^a   Girodon, E ^a  

^a HENRI MONDOR HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CFTR PROTEIN, HUMAN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CHROMOSOME ABERRATION; CYSTIC FIBROSIS; FEMALE; GENE DELETION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETICS; HAPLOTYPE; HUMAN; INFANT; MALE; MIDDLE AGED; MISSENSE MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE;

ADOLESCENT; ADULT; ALLELES; BASE SEQUENCE; CHILD; CHROMOSOME ABERRATIONS; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; HAPLOTYPES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION, MISSENSE; POLYMORPHISM, GENETIC; SEQUENCE DELETION;

EID: 33746667335     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9431     Document Type: Article

References (0)